{"id":"W4318070748","doi":"10.1001/jamanetworkopen.2022.53191","title":"Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease","year":2023,"lang":"en","type":"article","venue":"JAMA Network Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Holland Bloorview Kids Rehabilitation Hospital; University of Toronto","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute","keywords":"Neurodevelopmental disorder; Cohort; Anxiety; Intellectual disability; Medicine; Disease; Heart disease; Depression (economics); Psychiatry; Internal medicine; Autism","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005835735,0.0002676157,0.0001769394,0.0005935107,0.0003417613,0.0003379169,0.0003457819,0.0003917595,0.001374788],"category_scores_gemma":[0.002577874,0.0001383687,0.0002449871,0.0004917225,0.0003423619,0.0002301948,0.0004040192,0.0004234338,0.00007815298],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001908861,"about_ca_system_score_gemma":0.0002206188,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00265777,"about_ca_topic_score_gemma":0.00537411,"domain_scores_codex":[0.9995777,0.00008815942,0.00005895629,0.0001565788,0.00006834531,0.0000502392],"domain_scores_gemma":[0.9982924,0.0003880427,0.0009122028,0.00009666722,0.0001236145,0.0001871334],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003896688,0.00001502122,0.9988004,0.00000777949,0.000042641,0.00008179904,0.00001991439,0.00002405188,0.0003177018,0.00001524153,0.00002915736,0.0006072994],"study_design_scores_gemma":[0.000003692531,0.00005885667,0.9990122,0.000007547201,0.00003000207,0.0005265822,0.00003417295,0.00008897557,0.0001448144,0.00003203209,0.00005913213,0.000001836706],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992111,0.0002075337,0.0001012742,0.00002925421,0.000004433487,0.000004241487,0.0002450516,0.000001987416,0.0001952185],"genre_scores_gemma":[0.9994753,0.00007663373,0.0001258036,0.00001556738,0.000007499652,0.000003540349,0.0002360692,0.000001188647,0.00005835059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00265777,"threshold_uncertainty_score":0.005284607,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009024390480872066,"score_gpt":0.2462467373527447,"score_spread":0.2372223468718727,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}